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44 results for Brain+Diseases,+Metabolic,+Inborn+-+pathology

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Progress in understanding 2-hydroxyglutaric acidurias
Author / Creator:Kranendijk, Martijn ; Struys, Eduard A. ; Salomons, Gajja S. ; Van der Knaap, Marjo S. ; Jakobs, Cornelis
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.571-587
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Impact of age at onset and newborn screening on outcome in organic acidurias
Author / Creator:Heringer, Jana ; Valayannopoulos, Vassili ; Lund, Allan M. ; Wijburg, Frits A. ; Freisinger, Peter ; Barić, Ivo ; Baumgartner, Matthias R. ; Burgard, Peter ; Burlina, Alberto B. ; Chapman, Kimberly A. ; i Saladelafont, Elisenda Cortès ; Karall, Daniela ; Mühlhausen, Chris ; Riches, Victoria ; Schiff, Manuel ; Sykut-Cegielska, Jolanta ; Walter, John H. ; Zeman, Jiri ; Chabrol, Brigitte ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353
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A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair
Author / Creator:Rzem, Rim ; Achouri, Younes ; Marbaix, Etienne ; Schakman, Olivier ; Wiame, Elsa ; Marie, Sandrine ; Gailly, Philippe ; Vincent, Marie-Françoise ; Veiga-da-Cunha, Maria ; Van Schaftingen, Emile
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0119540
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Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
Author / Creator:Hanna-El-Daher, Layane ; Braissant, Olivier
Publisher:Vienna: Springer Vienna
Journal title:Amino acids, 2016-08, Vol.48 (8), p.1877-1895
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A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study
Author / Creator:Molinaro, Angelo ; Alessandrì, Maria Grazia ; Putignano, Elena ; Leuzzi, Vincenzo ; Cioni, Giovanni ; Baroncelli, Laura ; Pizzorusso, Tommaso
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-01, Vol.9 (1), p.62-62, Article 62
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Human Coenzyme Q10 Deficiency
Author / Creator:Quinzii, Catarina M. ; DiMauro, Salvatore ; Hirano, Michio
Publisher:United States: Springer Nature B.V
Journal title:Neurochemical research, 2007-04, Vol.32 (4-5), p.723-727
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The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development
Author / Creator:Ghirardini, Elsa ; Calugi, Francesco ; Sagona, Giulia ; Di Vetta, Federica ; Palma, Martina ; Battini, Roberta ; Cioni, Giovanni ; Pizzorusso, Tommaso ; Baroncelli, Laura
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-07, Vol.12 (8), p.1123
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Congenital Glutamine Deficiency with Glutamine Synthetase Mutations
Author / Creator:Häberle, Johannes ; Görg, Boris ; Rutsch, Frank ; Schmidt, Eva ; Toutain, Annick ; Benoist, Jean-François ; Gelot, Antoinette ; Suc, Annie-Laure ; Höhne, Wolfgang ; Schliess, Freimut ; Häussinger, Dieter ; Koch, Hans G
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2005-11, Vol.353 (18), p.1926-1933
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Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation
Author / Creator:Kölker, Stefan ; Burgard, Peter ; Sauer, Sven W. ; Okun, Jürgen G.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-07, Vol.36 (4), p.635-644
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Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy
Author / Creator:Di Meo, Ivano ; Auricchio, Alberto ; Lamperti, Costanza ; Burlina, Alberto ; Viscomi, Carlo ; Zeviani, Massimo
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2012-09, Vol.4 (9), p.1008-1014
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Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
Author / Creator:Tise, Christina G. ; Palma, Melinda J. ; Cusmano-Ozog, Kristina P. ; Matalon, Dena R.
Publisher:Los Angeles, CA: SAGE Publications
Journal title:JIM - high impact case reports, 2023-01, Vol.11, p.23247096231154438-23247096231154438
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Gastrointestinal and hepatic manifestations of mitochondrial disorders
Author / Creator:Rahman, Shamima
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-07, Vol.36 (4), p.659-673
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Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I
Author / Creator:Zinnanti, William J. ; Lazovic, Jelena ; Housman, Cathy ; LaNoue, Kathryn ; O’Callaghan, James P. ; Simpson, Ian ; Woontner, Michael ; Goodman, Stephen I. ; Connor, James R. ; Jacobs, Russell E. ; Cheng, Keith C.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2007-11, Vol.117 (11), p.3258-3270
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Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers
Author / Creator:Shea, A. ; De Risio, L. ; Carruthers, H. ; Ekiri, A. ; Beltran, E.
Publisher:England: BMJ Publishing Group Limited
Journal title:Veterinary record, 2016-11, Vol.179 (21), p.545-545
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Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study
Author / Creator:Wang, Raymond Y. ; Monuki, Edwin S. ; Powers, James ; Schwartz, Phillip H. ; Watkins, Paul A. ; Shi, Yang ; Moser, Ann ; Shrier, David A. ; Waterham, Hans R. ; Nugent, Diane J. ; Abdenur, Jose E.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.791-799
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Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy
Author / Creator:Giordano, Carla ; Viscomi, Carlo ; Orlandi, Maurizia ; Papoff, Paola ; Spalice, Alberto ; Burlina, Alberto ; Di Meo, Ivano ; Tiranti, Valeria ; Leuzzi, Vincenzo ; d’Amati, Giulia ; Zeviani, Massimo
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.451-458
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Severe early onset ethylmalonic encephalopathy with West syndrome
Author / Creator:Papetti, Laura ; Garone, Giacomo ; Schettini, Livia ; Giordano, Carla ; Nicita, Francesco ; Papoff, Paola ; Zeviani, Massimo ; Leuzzi, Vincenzo ; Spalice, Alberto
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2015-12, Vol.30 (6), p.1537-1545
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Neuronal and glial accumulation of α- and β-synucleins in human lipidoses
Author / Creator:Suzuki, Kyoko ; Iseki, Eizo ; Togo, Takashi ; Yamaguchi, Akira ; Katsuse, Omi ; Katsuyama, Kayoko ; Kanzaki, Seiichi ; Shiozaki, Kazumasa ; Kawanishi, Chiaki ; Yamashita, Sumimasa ; Tanaka, Yukichi ; Yamanaka, Shoji ; Hirayasu, Yoshio
Publisher:Germany
Journal title:Acta neuropathologica, 2007-11, Vol.114 (5), p.481-489
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Neuroferritinopathy: a new inborn error of iron metabolism
Author / Creator:Keogh, Michael J. ; Jonas, Patricia ; Coulthard, Alan ; Chinnery, Patrick F. ; Burn, John
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Neurogenetics, 2012-02, Vol.13 (1), p.93-96
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Familial deep cavitating state with a glutathione metabolism defect
Author / Creator:Rendu, John ; Van Noolen, Laetitia ; Garrel, Catherine ; Brocard, Julie ; Marty, Isabelle ; Corne, Christelle ; Fauré, Julien ; Besson, Gérard
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-12, Vol.6 (12), p.2573-2578
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Showing 1 to 20 of 44 results

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Progress in understanding 2-hydroxyglutaric acidurias

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Impact of age at onset and newborn screening on outcome in organic acidurias

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A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair

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Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?

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A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study

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Human Coenzyme Q10 Deficiency

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The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development

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Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

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Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

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Effective AAV‐mediated gene therapy in a mouse model of ethylmalonic encephalopathy

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Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

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Gastrointestinal and hepatic manifestations of mitochondrial disorders

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Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I

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Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers

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Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study

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Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

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Severe early onset ethylmalonic encephalopathy with West syndrome

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Neuronal and glial accumulation of α- and β-synucleins in human lipidoses

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Neuroferritinopathy: a new inborn error of iron metabolism

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Familial deep cavitating state with a glutathione metabolism defect

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